Rob Pleticha says:
Hi Caitlyn,
Thanks for sharing your blog here. Putting a face on WHIM syndrome and raising awareness will help inform the wider public about what is like to live with WHIM. How old were you when you were diagnosed? What is the right balance of treatments that helps minimize infections?
Dear Mr. Pleticha,
I hope this blog will grow and turn into something that will help those without WHIMS understand what it's like as well as help guide those with WHIMS. It is people like you and others at RareConnect.org that are a huge part of my goal.
I was diagnosed at the age of 12 (2006). Two years before I was diagnosed, the WHIMS gene was isolated at Mount Sinai Hospital in NYC. After the gene was isolated, my many (many!) doctors put 2 and 2 together to diagnose me.
As for medications, I am currently on a weekly at home treatment of immunoglobulins to boost my immune system. I set up the medications myself and administer it subcutaneously.
I hope this answers your questions. And as for everyone, let me know if you have any questions.
Thank You!!
Thanks for expanding on the diagnosis and treatment. The NIH research sounds promising, let us know how that turns out. Is your mom also able to receive Neupogen?
ReplyDeleteHere is a link to why we started the community on RareConnect: http://www.geneticdiseasefoundation.org/2012/10/gdf-creates-first-online-community-for-whim-syndrome/
If you'd ever like to share a blog post with RareConnect, please post there and I will have it translated across the other 4 languages. Hopefully, we can find some others with WHIMS around the world. Have you met anyone from outside of the US?
Unfortunately for my mother, WHIMS was discovered a year after she passed away from brain cancer. I do not know any other patients besides my mother, aunt, and those i read about on RareConnect. Thank you for your help.
Delete